Keiichiro Ikuno1, Takashi S Kajii2, Akira Oka3, Hidetoshi Inoko4, Hiroyuki Ishikawa5, Junichiro Iida6. 1. Postgraduate student, Division of Oral Functional Science, Department of Orthodontics, Graduate School of Dental Medicine, Hokkaido University, Hokkaido, Japan. 2. Associate professor, Section of Orthodontics, Department of Oral Growth and Development, Fukuoka Dental College, Fukuoka, Japan. Electronic address: kajii@college.fdcnet.ac.jp. 3. Lecturer, Institute of Medical Science, Tokai University, Kanagawa, Japan. 4. Professor, Division of Basic Medical Science and Molecular Medicine, Department of Molecular Life Sciences, School of Medicine, Tokai University, Kanagawa, Japan. 5. Professor, Section of Orthodontics, Department of Oral Growth and Development, Fukuoka Dental College, Fukuoka, Japan. 6. Professor, Division of Oral Functional Science, Department of Orthodontics, Graduate School of Dental Medicine, Hokkaido University, Hokkaido, Japan.
Abstract
INTRODUCTION: Attempts have been made to identify susceptibility genes of mandibular prognathism by genome-wide linkage studies, but the results of susceptibility loci are inconsistent. There has been no genome-wide association study of mandibular prognathism. Our objective was to perform a genome-wide association study using 23,465 microsatellite markers to detect mandibular prognathism susceptibility regions. METHODS: The study was based on the pooled DNA method, including 2 steps of screening on the whole genome and subsequent individual genotyping, with 240 experimental subjects and 360 control subjects from the Japanese population. RESULTS: Two suggestive associations on chromosomes 1q32.2 (D1S1358i: P = 4.22 × 10(-4)) and 1p22.3 (D1S0411i: P = 6.66 × 10(-4)) were shown, and PLXNA2 and SSX2IP were suggested to be candidate genes; 1p22.3 flanked the region indicated by previous linkage analysis. CONCLUSIONS: The results of the genome-wide association study showed that 2 loci (1q32.2 and 1p22.3) are likely to be susceptibility regions of mandibular prognathism: 1p32.2 is a novel locus, and identification of 1p22.3 supports the results of previous linkage analysis.
INTRODUCTION: Attempts have been made to identify susceptibility genes of mandibular prognathism by genome-wide linkage studies, but the results of susceptibility loci are inconsistent. There has been no genome-wide association study of mandibular prognathism. Our objective was to perform a genome-wide association study using 23,465 microsatellite markers to detect mandibular prognathism susceptibility regions. METHODS: The study was based on the pooled DNA method, including 2 steps of screening on the whole genome and subsequent individual genotyping, with 240 experimental subjects and 360 control subjects from the Japanese population. RESULTS: Two suggestive associations on chromosomes 1q32.2 (D1S1358i: P = 4.22 × 10(-4)) and 1p22.3 (D1S0411i: P = 6.66 × 10(-4)) were shown, and PLXNA2 and SSX2IP were suggested to be candidate genes; 1p22.3 flanked the region indicated by previous linkage analysis. CONCLUSIONS: The results of the genome-wide association study showed that 2 loci (1q32.2 and 1p22.3) are likely to be susceptibility regions of mandibular prognathism: 1p32.2 is a novel locus, and identification of 1p22.3 supports the results of previous linkage analysis.
Authors: C S G da Fontoura; S F Miller; G L Wehby; B A Amendt; N E Holton; T E Southard; V Allareddy; L M Moreno Uribe Journal: J Dent Res Date: 2015-04-24 Impact factor: 6.116